Canonical Allele Identifier: CA390810796

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684929G>C (hg19) ; chr14:g.93218583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218583G>C , CM000676.2:g.93218583G>C	GRCh38
NC_000014.8:g.93684929G>C , CM000676.1:g.93684929G>C	GRCh37
NC_000014.7:g.92754682G>C	NCBI36
NG_051089.1:g.16528G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.658G>C MANE Select	ENSP00000013070.6:p.Asp220His
ENST00000013070.10:c.658G>C	ENSP00000013070.6:p.Asp220His
ENST00000416753.5:c.430G>C	ENSP00000391706.2:p.Asp144His
ENST00000553674.1:c.*359G>C	ENSP00000450470.1:n.*359G>C
ENST00000553857.5:c.378+3302G>C
ENST00000556871.5:c.367G>C	ENSP00000451022.1:p.Asp123His
ENST00000557048.1:n.567G>C
NM_175748.3:c.658G>C	NP_786924.2:p.Asp220His
NR_038150.1:n.760G>C
NM_175748.4:c.658G>C MANE Select	NP_786924.2:p.Asp220His
NR_038150.2:n.560G>C